نتائج البحث - "Ryan H. Purcell"

1

دورية أكاديمية

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

المؤلفون: Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/e1441505fb324218b0dd9286ccd86457Test

View record in DOAJ

النص الكامل

2

دورية أكاديمية

Metabolic effects of the schizophrenia-associated 3q29 deletion

المؤلفون: Rebecca M. Pollak, Ryan H. Purcell, Timothy P. Rutkowski, Tamika Malone, Kimberly J. Pachura, Gary J. Bassell, Michael P. Epstein, Paul A. Dawson, Matthew R. Smith, Dean P. Jones, Michael E. Zwick, Stephen T. Warren, Tamara Caspary, David Weinshenker, Jennifer G. Mulle

المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2158-3188Test

الوصول الحر: https://doaj.org/article/45761d0ab5754763bcdb5445206f521bTest

View record in DOAJ

النص الكامل

3

دورية أكاديمية

Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome

المؤلفون: Esra Sefik, Ryan H. Purcell, The Emory 3q29 Project, Elaine F. Walker, Gary J. Bassell, Jennifer G. Mulle

المصدر: Translational Psychiatry, Vol 11, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2158-3188Test

الوصول الحر: https://doaj.org/article/6a57f308932e48f480cafc16e8693925Test

View record in DOAJ

النص الكامل

4

Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion

المصدر: bioRxiv

مصطلحات موضوعية: Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bfeb2ef48fe4d6982c802522e1c6edTest
https://europepmc.org/articles/PMC9901184Test/

5

Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: 'We Can't Just Wish This Thing Away'

المؤلفون: Gary J. Bassell, Ryan H. Purcell, Melissa M. Murphy, Jennifer G. Mulle, Emory q, Megan R Glassford, Sarah Pass

المصدر: J Dev Behav Pediatr

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336249feea29f6498eb69d949bd468a2Test
https://doi.org/10.1097/dbp.0000000000000977Test

6

Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome

المؤلفون: Elaine F. Walker, Esra Sefik, Gary J. Bassell, Jennifer G. Mulle, Ryan H. Purcell, Emory q

المصدر: Translational Psychiatry, Vol 11, Iss 1, Pp 1-14 (2021)
Translational Psychiatry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8e36cdb5f308f40fb3fcff231cddf15Test
https://doaj.org/article/6a57f308932e48f480cafc16e8693925Test

7

Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report

المؤلفون: Ryan H. Purcell, Stephen Sanders, Audrey Thurm, Jennifer Cable, Mustafa Sahin, Jacob A. S. Vorstman, Christa Lese Martin, Bina Maniar Shah, Elise B. Robinson, Jennifer G. Mulle, Carrie E. Bearden, Wendy K. Chung, John N. Constantino, Ricardo E. Dolmetsch

المصدر: Annals of the New York Academy of Sciences, vol 1506, iss 1
Ann N Y Acad Sci

مصطلحات موضوعية: Research Report, 22q11.2 deletion, Autism, Penetrance, 16p11.2 deletion, Intellectual disability, 2.1 Biological and endogenous factors, 16p11, Copy-number variation, deletion, Aetiology, TSC, Pediatric, General Neuroscience, Mental Disorders, autism heterogeneity, neurodevelopmental disorders, Phenotype, 3q29 deletion, neuropsychiatric disorders, Mental Health, Autism spectrum disorder, Schizophrenia, intellectual disability, Identification (biology), General Science & Technology, Intellectual and Developmental Disabilities (IDD), autism spectrum disorder, Computational biology, Biology, Article, General Biochemistry, Genetics and Molecular Biology, History and Philosophy of Science, Behavioral and Social Science, medicine, Genetics, Humans, copy number variant, Genetic heterogeneity, Human Genome, Neurosciences, Genetic Variation, rare variants, Congresses as Topic, medicine.disease, Brain Disorders, 22q11, schizophrenia, Neurodevelopmental Disorders, polygenic risk score

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7c8cbd0eb1cc9b44eeae84ff28a883Test
https://escholarship.org/uc/item/0gx8f83gTest

8

Mice lacking full length Adgrb1 (Bai1) exhibit social deficits, increased seizure susceptibility, and altered brain development

المؤلفون: Fu Hung Shiu, Jennifer C. Wong, Takahiro Yamamoto, Trisha Lala, Ryan H. Purcell, Sharon Owino, Dan Zhu, Erwin G. Van Meir, Randy A. Hall, Andrew Escayg

المصدر: Exp Neurol

مصطلحات موضوعية: Mice, Developmental Neuroscience, Neurology, Seizures, Animals, Brain, Angiogenic Proteins, Hippocampus, Article, Receptors, G-Protein-Coupled

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2afa399d29861f947d4900e1faa68822Test
https://doi.org/10.1016/j.expneurol.2022.113994Test

9

Metabolic effects of the schizophrenia-associated 3q29 deletion

المؤلفون: Rebecca M, Pollak, Ryan H, Purcell, Timothy P, Rutkowski, Tamika, Malone, Kimberly J, Pachura, Gary J, Bassell, Michael P, Epstein, Paul A, Dawson, Matthew R, Smith, Dean P, Jones, Michael E, Zwick, Stephen T, Warren, Tamara, Caspary, David, Weinshenker, Jennifer G, Mulle

المصدر: Translational psychiatry. 12(1)

مصطلحات موضوعية: Male, Mice, Inbred C57BL, Mice, Phenotype, Developmental Disabilities, Intellectual Disability, Schizophrenia, Animals, Humans, Female, Chromosome Deletion, Child, Diet, High-Fat

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::97bf9793a0652258e84604e3ed201b97Test
https://pubmed.ncbi.nlm.nih.gov/35177588Test

10

Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion

المؤلفون: Ryan H. Purcell, Timothy P Rutkowski, Stephen T. Warren, David Weinshenker, Michael P. Epstein, Jason P. Schroeder, Uswa A. Khan, Georgette M. Gafford, Tamara Caspary, Stephanie M. Grewenow, Rebecca M Pollak, Jennifer G. Mulle, Tamika Malone, Gary J. Bassell

المصدر: Molecular psychiatry

مصطلحات موضوعية: 0301 basic medicine, Generalized anxiety disorder, Autism Spectrum Disorder, Developmental Disabilities, Biology, Article, Mice, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Chromosome 16, Intellectual Disability, medicine, Animals, Humans, CRISPR, Clustered Regularly Interspaced Short Palindromic Repeats, Child, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, medicine.disease, Phenotype, Mice, Inbred C57BL, Disease Models, Animal, Psychiatry and Mental health, 030104 developmental biology, Schizophrenia, Autism spectrum disorder, DLG1, biology.protein, Chromosome Deletion, Haploinsufficiency, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eed358b24286dad7338a7c19bda4c24Test
https://doi.org/10.1038/s41380-019-0413-5Test

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